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Aliases for ACSM3 Gene

Aliases for ACSM3 Gene

  • Acyl-CoA Synthetase Medium Chain Family Member 3 2 3 5
  • SA (Rat Hypertension-Associated) Homolog 2 3
  • Middle-Chain Acyl-CoA Synthetase 3 3 4
  • Butyryl-Coenzyme A Synthetase 3 3 4
  • Butyrate--CoA Ligase 3 3 4
  • Protein SA Homolog 3 4
  • SAH 3 4
  • Acyl-CoA Synthetase Medium-Chain Family Member 3 4
  • Acyl-Coenzyme A Synthetase ACSM3, Mitochondrial 3
  • SA Hypertension-Associated Homolog (Rat) 2
  • SA Hypertension-Associated Homolog 3
  • EC 6.2.1.2 4
  • SA 3

External Ids for ACSM3 Gene

Previous HGNC Symbols for ACSM3 Gene

  • SAH

Previous GeneCards Identifiers for ACSM3 Gene

  • GC16P020683
  • GC16P020775
  • GC16P019310

Summaries for ACSM3 Gene

GeneCards Summary for ACSM3 Gene

ACSM3 (Acyl-CoA Synthetase Medium Chain Family Member 3) is a Protein Coding gene. Among its related pathways are Mitochondrial Fatty Acid Beta-Oxidation and Metabolism. Gene Ontology (GO) annotations related to this gene include butyrate-CoA ligase activity and fatty acid ligase activity. An important paralog of this gene is ACSM4.

UniProtKB/Swiss-Prot for ACSM3 Gene

  • Has medium-chain fatty acid:CoA ligase activity with broad substrate specificity (in vitro). Acts on acids from C(4) to C(11) and on the corresponding 3-hydroxy- and 2,3- or 3,4-unsaturated acids (in vitro) (By similarity).

Gene Wiki entry for ACSM3 Gene

Additional gene information for ACSM3 Gene

No data available for Entrez Gene Summary , CIViC summary , Tocris Summary , PharmGKB "VIP" Summary , fRNAdb sequence ontologies and piRNA Summary for ACSM3 Gene

Genomics for ACSM3 Gene

GeneHancer (GH) Regulatory Elements for ACSM3 Gene

Promoters and enhancers for ACSM3 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH16J020762 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE dbSUPER 665.1 +154.8 154823 4.5 HDGF PKNOX1 SMAD1 ARID4B SIN3A YBX1 IRF4 YY1 ZNF280A SLC30A9 THUMPD1 ACSM3 ENSG00000260510 SMG1P3 NPIPB3 REXO5 GC16P020744
GH16J020673 Promoter/Enhancer 2.1 EPDnew Ensembl ENCODE 659.6 +65.5 65456 5.1 HDGF PKNOX1 FOXA2 MLX ARNT ARID4B SIN3A DMAP1 ZBTB7B POLR2B ACSM3 LOC105379461 ACSM1
GH16J020611 Enhancer 0.8 ENCODE dbSUPER 650.7 +1.8 1834 1.6 RXRA REST ZNF644 RAD21 YY1 SP1 MXD3 HNF4A ACSM3 ACSM1 ENSG00000275315
GH16J020896 Promoter/Enhancer 2.6 EPDnew FANTOM5 Ensembl ENCODE dbSUPER 19.3 +292.4 292413 11.5 CLOCK DMAP1 YY1 SLC30A9 E2F8 ZNF143 SP3 NFYC MEF2D GLIS1 DCUN1D3 LYRM1 THUMPD1 ACSM3 SMG1P3 ACSM1 CRYM ERI2 PIR35456 GC16P020829
GH16J020739 Promoter/Enhancer 2.3 EPDnew Ensembl ENCODE dbSUPER 15.1 +130.8 130814 2.8 PKNOX1 MLX ARNT ZFP64 ARID4B SIN3A DMAP1 ZNF2 IRF4 YY1 THUMPD1 ACSM3 ACSM1 ENSG00000285303
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data dump

GeneHancers around ACSM3 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the ACSM3 gene promoter:
  • STAT1
  • p53
  • STAT3
  • ATF-2

Genomic Locations for ACSM3 Gene

Genomic Locations for ACSM3 Gene
chr16:20,610,243-20,797,581
(GRCh38/hg38)
Size:
187,339 bases
Orientation:
Plus strand
chr16:20,621,565-20,808,903
(GRCh37/hg19)
Size:
187,339 bases
Orientation:
Plus strand

Genomic View for ACSM3 Gene

Genes around ACSM3 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
ACSM3 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for ACSM3 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for ACSM3 Gene

Proteins for ACSM3 Gene

  • Protein details for ACSM3 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q53FZ2-ACSM3_HUMAN
    Recommended name:
    Acyl-coenzyme A synthetase ACSM3, mitochondrial
    Protein Accession:
    Q53FZ2
    Secondary Accessions:
    • O60363
    • Q13732
    • Q15425
    • Q7KYM6
    • Q9BUA2

    Protein attributes for ACSM3 Gene

    Size:
    586 amino acids
    Molecular mass:
    66153 Da
    Cofactor:
    Name=Mg(2+); Xref=ChEBI:CHEBI:18420;
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAC31667.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=BAA03853.1; Type=Erroneous initiation; Evidence={ECO:0000305}; Sequence=CAA56369.1; Type=Erroneous initiation; Evidence={ECO:0000305};

    Alternative splice isoforms for ACSM3 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for ACSM3 Gene

Post-translational modifications for ACSM3 Gene

  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

No data available for DME Specific Peptides for ACSM3 Gene

Domains & Families for ACSM3 Gene

Gene Families for ACSM3 Gene

HGNC:
Human Protein Atlas (HPA):
  • Enzymes
  • Predicted intracellular proteins

Protein Domains for ACSM3 Gene

Suggested Antigen Peptide Sequences for ACSM3 Gene

GenScript: Design optimal peptide antigens:

Graphical View of Domain Structure for InterPro Entry

Q53FZ2

UniProtKB/Swiss-Prot:

ACSM3_HUMAN :
  • Belongs to the ATP-dependent AMP-binding enzyme family.
Family:
  • Belongs to the ATP-dependent AMP-binding enzyme family.
genes like me logo Genes that share domains with ACSM3: view

Function for ACSM3 Gene

Molecular function for ACSM3 Gene

UniProtKB/Swiss-Prot Function:
Has medium-chain fatty acid:CoA ligase activity with broad substrate specificity (in vitro). Acts on acids from C(4) to C(11) and on the corresponding 3-hydroxy- and 2,3- or 3,4-unsaturated acids (in vitro) (By similarity).
UniProtKB/Swiss-Prot CatalyticActivity:
ATP + a carboxylate + CoA = AMP + diphosphate + an acyl-CoA.

Enzyme Numbers (IUBMB) for ACSM3 Gene

Phenotypes From GWAS Catalog for ACSM3 Gene

Gene Ontology (GO) - Molecular Function for ACSM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0003824 catalytic activity IEA --
GO:0003996 acyl-CoA ligase activity IBA --
GO:0004321 fatty-acyl-CoA synthase activity IBA --
GO:0005524 ATP binding IEA --
genes like me logo Genes that share ontologies with ACSM3: view
genes like me logo Genes that share phenotypes with ACSM3: view

Animal Models for ACSM3 Gene

MGI Knock Outs for ACSM3:

Animal Model Products

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACSM3

Clone Products

No data available for Human Phenotype Ontology , miRNA , Transcription Factor Targets and HOMER Transcription for ACSM3 Gene

Localization for ACSM3 Gene

Subcellular locations from UniProtKB/Swiss-Prot for ACSM3 Gene

Mitochondrion matrix.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for ACSM3 gene
Compartment Confidence
mitochondrion 3
peroxisome 1
nucleus 1
cytosol 1

Gene Ontology (GO) - Cellular Components for ACSM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005739 mitochondrion IEA --
GO:0005759 mitochondrial matrix IBA --
genes like me logo Genes that share ontologies with ACSM3: view

No data available for Subcellular locations from the Human Protein Atlas (HPA) for ACSM3 Gene

Pathways & Interactions for ACSM3 Gene

genes like me logo Genes that share pathways with ACSM3: view

Gene Ontology (GO) - Biological Process for ACSM3 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0006629 lipid metabolic process IEA --
GO:0006631 fatty acid metabolic process IEA --
GO:0006633 fatty acid biosynthetic process IBA --
GO:0006637 acyl-CoA metabolic process IBA --
GO:0008152 metabolic process IEA --
genes like me logo Genes that share ontologies with ACSM3: view

No data available for SIGNOR curated interactions for ACSM3 Gene

Drugs & Compounds for ACSM3 Gene

(10) Drugs for ACSM3 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Adenosine monophosphate Approved, Investigational Nutra 0
Magnesium Approved Nutra 0
Butyric Acid Experimental, Investigational Pharma Full agonist, Agonist 408
Heptanoic acid Experimental, Investigational Pharma 0
Hexanoyl-CoA Experimental Pharma 0

(33) Additional Compounds for ACSM3 Gene - From: HMDB

Name Synonyms Role CAS Number PubChem IDs PubMed IDs
(2E)-Decenoyl-CoA
  • (e)-S-2-Decenoate
  • (e)-S-2-Decenoate CoA
  • (e)-S-2-Decenoate coenzyme A
  • (e)-S-2-Decenoic acid
  • 2-trans-Decenoyl-CoA
10018-95-8
(2E)-Dodecenoyl-CoA
1066-12-2
(2E)-Hexadecenoyl-CoA
  • (e)-C16:1 N-14-CoA
  • (e)-Hexadec-2-enoyl-CoA tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A tetraanion
  • (e)-Hexadec-2-enoyl-coenzyme A(4-)
  • trans-2-Hexadecenoyl-CoA(4-)
4460-95-1
(2E)-Octenoyl-CoA
  • (e)-S-2-Octenoate
  • (e)-S-2-Octenoate CoA
  • (e)-S-2-Octenoate coenzyme A
  • (e)-S-2-Octenoic acid
  • 2,3-trans-Octenoyl coenzyme A
10018-94-7
(2E)-Tetradecenoyl-CoA
  • (2E)-Tetradecenoyl-coenzyme A
  • trans-Tetra-dec-2-enoyl-CoA
  • trans-Tetra-dec-2-enoyl-coa.
  • trans-Tetra-dec-2-enoyl-coenzyme A
  • trans-Tetra-dec-2-enoyl-coenzyme A.
38795-33-4
genes like me logo Genes that share compounds with ACSM3: view

Transcripts for ACSM3 Gene

Unigene Clusters for ACSM3 Gene

Acyl-CoA synthetase medium-chain family member 3:
Representative Sequences:

CRISPR Products

Inhibitory RNA Products

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for ACSM3

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for ACSM3 Gene

No ASD Table

Relevant External Links for ACSM3 Gene

GeneLoc Exon Structure for
ACSM3
ECgene alternative splicing isoforms for
ACSM3

Expression for ACSM3 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for ACSM3 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for ACSM3 Gene

This gene is overexpressed in Ovary (x11.0), Liver (x6.1), and Kidney - Cortex (x4.1).

Protein differential expression in normal tissues from HIPED for ACSM3 Gene

This gene is overexpressed in Gallbladder (30.2), Liver (18.8), and Kidney (12.4).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB, MaxQB, and MOPED for ACSM3 Gene



Protein tissue co-expression partners for ACSM3 Gene

NURSA nuclear receptor signaling pathways regulating expression of ACSM3 Gene:

ACSM3

SOURCE GeneReport for Unigene cluster for ACSM3 Gene:

Hs.706754

Evidence on tissue expression from TISSUES for ACSM3 Gene

  • Liver(4.6)
  • Kidney(4.5)
  • Skin(4)
genes like me logo Genes that share expression patterns with ACSM3: view

No data available for mRNA Expression by UniProt/SwissProt and Phenotype-based relationships between genes and organs from Gene ORGANizer for ACSM3 Gene

Orthologs for ACSM3 Gene

This gene was present in the common ancestor of animals.

Orthologs for ACSM3 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
Mammalia ACSM3 34 33
  • 99.43 (n)
OneToOne
cow
(Bos Taurus)
Mammalia ACSM3 34 33
  • 89.93 (n)
OneToOne
dog
(Canis familiaris)
Mammalia ACSM3 34 33
  • 89.87 (n)
OneToOne
mouse
(Mus musculus)
Mammalia Acsm3 16 34 33
  • 86.77 (n)
rat
(Rattus norvegicus)
Mammalia Acsm3 33
  • 86.19 (n)
oppossum
(Monodelphis domestica)
Mammalia ACSM3 34
  • 74 (a)
OneToOne
platypus
(Ornithorhynchus anatinus)
Mammalia -- 34
  • 74 (a)
OneToMany
-- 34
  • 73 (a)
OneToMany
chicken
(Gallus gallus)
Aves ACSM3 34 33
  • 69.24 (n)
OneToOne
lizard
(Anolis carolinensis)
Reptilia ACSM3 34
  • 66 (a)
OneToOne
tropical clawed frog
(Silurana tropicalis)
Amphibia acsm3 33
  • 68.62 (n)
zebrafish
(Danio rerio)
Actinopterygii acsm3 34 33
  • 64.91 (n)
OneToOne
fruit fly
(Drosophila melanogaster)
Insecta CG8834 34
  • 20 (a)
ManyToMany
worm
(Caenorhabditis elegans)
Secernentea acs-16 34
  • 16 (a)
OneToMany
Species where no ortholog for ACSM3 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea squirt (Ciona intestinalis)
  • sea squirt (Ciona savignyi)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • wheat (Triticum aestivum)

Evolution for ACSM3 Gene

ENSEMBL:
Gene Tree for ACSM3 (if available)
TreeFam:
Gene Tree for ACSM3 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for ACSM3: view image

Paralogs for ACSM3 Gene

Paralogs for ACSM3 Gene

(15) SIMAP similar genes for ACSM3 Gene using alignment to 9 proteins:

  • ACSM3_HUMAN
  • E7ETR5_HUMAN
  • H3BR33_HUMAN
  • H3BSM0_HUMAN
  • H3BT38_HUMAN
  • H3BTG0_HUMAN
  • H3BUF2_HUMAN
  • H3BV29_HUMAN
  • H3BVD5_HUMAN
genes like me logo Genes that share paralogs with ACSM3: view

Variants for ACSM3 Gene

Sequence variations from dbSNP and Humsavar for ACSM3 Gene

SNP ID Clin Chr 16 pos Variation AA Info Type
rs1000031848 -- 20,764,302(+) T/G genic_upstream_transcript_variant, intron_variant
rs1000126032 -- 20,773,376(+) A/C intron_variant
rs1000296370 -- 20,793,948(+) A/G genic_downstream_transcript_variant, intron_variant
rs1000342212 -- 20,779,047(+) G/A intron_variant
rs1000344588 -- 20,765,766(+) C/T genic_upstream_transcript_variant, intron_variant

Structural Variations from Database of Genomic Variants (DGV) for ACSM3 Gene

Variant ID Type Subtype PubMed ID
nsv958185 CNV deletion 24416366
nsv833165 CNV loss 17160897
nsv436835 CNV insertion 17901297
nsv1070757 CNV deletion 25765185
nsv1050009 CNV loss 25217958
esv9416 CNV loss 19470904
esv3638156 CNV loss 21293372
esv3553216 CNV deletion 23714750
esv3201568 CNV deletion 24192839
esv2793 CNV loss 18987735
esv2714064 CNV deletion 23290073
esv2664545 CNV deletion 23128226
esv2582493 CNV deletion 19546169
esv1965812 CNV deletion 18987734
esv1388215 CNV deletion 17803354
esv1008054 CNV deletion 20482838
dgv1315n106 CNV deletion 24896259

Variation tolerance for ACSM3 Gene

Residual Variation Intolerance Score: 87.7% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 6.08; 75.31% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for ACSM3 Gene

Human Gene Mutation Database (HGMD)
ACSM3
SNPedia medical, phenotypic, and genealogical associations of SNPs for
ACSM3

SNP Genotyping and Copy Number Assay Products

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for ACSM3 Gene

Disorders for ACSM3 Gene

Additional Disease Information for ACSM3

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology

No disorders were found for ACSM3 Gene.

No data available for MalaCards , UniProtKB/Swiss-Prot and Genatlas for ACSM3 Gene

Publications for ACSM3 Gene

  1. Human SA gene polymorphisms are associated with non-high-density lipoprotein cholesterol in postmenopausal women: a pilot study. (PMID: 19108963) Lin MW … Ho LT (Maturitas 2009) 3 22 44 58
  2. SAH gene variants are associated with obesity-related hypertension in Caucasians: the PEGASE Study. (PMID: 17278971) Telgmann R … Brand-Herrmann SM (Journal of hypertension 2007) 3 4 44 58
  3. Association between SAH, an acyl-CoA synthetase gene, and hypertriglyceridemia, obesity, and hypertension. (PMID: 11772874) Iwai N … Baba S (Circulation 2002) 3 22 44 58
  4. Molecular identification and characterization of two medium-chain acyl-CoA synthetases, MACS1 and the Sa gene product. (PMID: 11470804) Fujino T … Yamamoto TT (The Journal of biological chemistry 2001) 2 3 22 58
  5. Evaluation of the SA locus in human hypertension. (PMID: 7843754) Nabika T … Soubrier F (Hypertension (Dallas, Tex. : 1979) 1995) 2 3 4 58

Products for ACSM3 Gene

Sources for ACSM3 Gene

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